HGVS | Genome Assembly |
---|---|
NC_000003.12:g.9890750_9890787del , CM000665.2:g.9890750_9890787del | GRCh38 |
NC_000003.11:g.9932434_9932471del , CM000665.1:g.9932434_9932471del | GRCh37 |
NC_000003.10:g.9907434_9907471del | NCBI36 |
NG_041779.1:g.5164_5201del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000489724.2:c.28_65del | ENSP00000497724.1:p.Ala10ArgfsTer26 | |
ENST00000647897.1:c.28_65del MANE Select | ENSP00000496942.1:p.Ala10ArgfsTer14 | |
ENST00000307768.4:c.28_65del | ENSP00000306106.4:p.Ala10ArgfsTer14 | |
ENST00000489724.1:n.118_155del | ||
ENST00000616966.2:c.28_65del | ENSP00000481606.1:p.Ala10ArgfsTer14 | |
NM_032492.3:c.28_65del | NP_115881.3:p.Ala10ArgfsTer14 | |
NM_001363890.1:c.-241_-204del | NP_001350819.1:n.-241_-204del | |
NM_032492.4:c.28_65del MANE Select | NP_115881.3:p.Ala10ArgfsTer14 |